Variant report

Variant	esv1810849
Chromosome Location	chr11:65927773-65939026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65938428..65942314-chr11:65944673..65947481,3	MCF-7	breast:
2	chr11:65835851..65838515-chr11:65935977..65938338,2	MCF-7	breast:
3	chr11:65836198..65839140-chr11:65932253..65934463,3	K562	blood:
4	chr11:65921627..65923245-chr11:65927449..65930072,2	MCF-7	breast:
5	chr11:65937498..65939966-chr11:65945396..65947258,2	K562	blood:
6	chr11:65818157..65820412-chr11:65929090..65931469,2	K562	blood:
7	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:
8	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLC2-2	chr11:65933321-65935022	l_501_chr11:65933320-65934902_prostate

No data

Variant related genes	Relation type
ENSG00000255038	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000087365	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs526200	chr11:65927773-65927774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553017185	chr11:65927793-65927794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566636222	chr11:65927817-65927818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553141472	chr11:65927832-65927833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535795854	chr11:65927855-65927856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555476365	chr11:65927937-65927938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575636267	chr11:65927956-65927957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17147376	chr11:65927967-65927968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147411747	chr11:65927979-65927980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs693382	chr11:65928018-65928019	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540436619	chr11:65928052-65928053	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138132318	chr11:65928054-65928055	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573775791	chr11:65928108-65928109	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58145434	chr11:65928151-65928152	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs801737	chr11:65928193-65928194	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs143694142	chr11:65928245-65928246	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538778533	chr11:65928258-65928259	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531364236	chr11:65928317-65928318	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10488727	chr11:65928342-65928343	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564453897	chr11:65928343-65928344	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183259764	chr11:65928355-65928356	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546796514	chr11:65928423-65928424	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs801736	chr11:65928430-65928431	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs374835376	chr11:65928440-65928441	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535570861	chr11:65928479-65928480	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188136376	chr11:65928492-65928493	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113698380	chr11:65928527-65928528	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113275544	chr11:65928559-65928560	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139438079	chr11:65928563-65928564	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77768751	chr11:65928609-65928610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375532494	chr11:65928654-65928655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538260286	chr11:65928659-65928660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369972326	chr11:65928682-65928683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558049971	chr11:65928737-65928738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578001144	chr11:65928772-65928773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575584361	chr11:65928779-65928780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192931348	chr11:65928822-65928823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573811273	chr11:65928853-65928854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576625267	chr11:65928855-65928856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544597471	chr11:65928876-65928877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371648010	chr11:65928929-65928930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542333640	chr11:65928952-65928953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541950634	chr11:65929055-65929056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs36067708	chr11:65929109-65929110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149678688	chr11:65929163-65929164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575911068	chr11:65929214-65929215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544616532	chr11:65929237-65929238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564394505	chr11:65929294-65929295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561215818	chr11:65929324-65929325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572083922	chr11:65929398-65929399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
2	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
4	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:65910000-65939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:65910600-65939600	Weak transcription	NHDF-Ad	bronchial
7	chr11:65911000-65939400	Weak transcription	NH-A	brain
8	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:65913400-65929800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
11	chr11:65914200-65939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:65914600-65929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:65918000-65949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:65919000-65928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65919000-65928600	Weak transcription	Left Ventricle	heart
16	chr11:65919000-65939800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:65920200-65928000	Weak transcription	Primary T cells from cord blood	blood
18	chr11:65920400-65954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:65921000-65932400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:65924800-65928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:65924800-65943200	Weak transcription	NHEK	skin
22	chr11:65925000-65939400	Weak transcription	Osteobl	bone
23	chr11:65925000-65939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:65925200-65928200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:65925200-65928200	Weak transcription	A549	lung
26	chr11:65925200-65932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:65925200-65939600	Weak transcription	HMEC	breast
28	chr11:65925400-65928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:65925400-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:65925600-65952800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:65925800-65929200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:65925800-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:65926000-65928200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:65926000-65928200	Weak transcription	GM12878-XiMat	blood
35	chr11:65926800-65928000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:65926800-65929400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:65927000-65927800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:65927000-65927800	Enhancers	Brain Germinal Matrix	brain
39	chr11:65927000-65927800	Enhancers	Fetal Heart	heart
40	chr11:65927000-65927800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:65927000-65928400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:65927000-65929400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:65927200-65939800	Weak transcription	Lung	lung
44	chr11:65927200-65951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:65927200-65951000	Weak transcription	Pancreas	Pancrea
46	chr11:65927200-65958400	Weak transcription	Gastric	stomach
47	chr11:65927400-65927800	Enhancers	Right Ventricle	heart
48	chr11:65927400-65928600	Weak transcription	Fetal Brain Female	brain
49	chr11:65927400-65928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:65927400-65929200	Weak transcription	HSMMtube	muscle

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